Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.H150R

CTNNA3

269 papers

RefSeq Summary

This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhyt...

Pfam Domains

Vinculinaa 17–856UCSCVinculin family

Gene Aliases

HGNC Name

catenin alpha 3

HGNC Alias Symbols

VR22; MGC26194

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_013266.4
p.H150R
c.449A>G
Surrounding Variants
1 paper
NM_013266.4
p.L148_V151del4
c.442_452del12
1 paper
NM_013266.4
p.A153P
c.457G>C
2 papers
NM_013266.4
p.I142F
c.424A>T
2 papers
NM_013266.4
p.A139P
c.415G>C
1 paper
NM_013266.4
p.I137I
c.411C>T
1 paper
NM_013266.4
p.T133M
c.398C>T
1 paper
NM_013266.4
p.T133P
c.397A>C
2 papers
NM_013266.4
p.R126H
c.377G>A
1 paper
NM_013266.4
p.R126C
c.376C>T
1 paper
NM_013266.4
p.E119delFs
c.355delC
1 paper
NM_013266.4
p.E119fs
c.355_356fs
1 paper
NM_013266.4
p.L115I
c.343C>A
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